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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **1801 - 1825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0110960	Gaucher's disease perinatal lethal Aliases: Fetal Gaucher Disease Gaucher Disease, Collodion Type	Gba1	14466	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	b4galt7.L b4galt7.S	108710989 495369	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	Sdc dpp htl rt	33432 37447 39297 42160	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9869	hereditary fructose intolerance syndrome Aliases: Fructosaemia Fructose-1,6-bisphosphate aldolase B deficiency Fructosemia	aldob	321664	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0111650	ectodermal dysplasia 13 Aliases: ECTD13 ectodermal dysplasia 13, hair/tooth type	kremen1.S	398249	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:557	kidney disease Aliases: impaired renal function disease nephropathy	Abcc3 Adrb2 Amn Bmp7 Casp9 Ccl2 Cep290 Col4a1 Cst3 Ctla4 Cubn Cygb F7 G6pd2 G6pdx Havcr1 Kat2a Kat2b Kirrel1 Kirrel2 Kirrel3 Kl Klb Lcn2 Lctl Lipc Lyn Mki67 Mlxipl Mmp9 Nphs1 Pals1 Ppp3ca Ramp2 Src Srebf1 Srebf2 Tgfbr1 Tgfbr2 Timd2 Tnf Tnfrsf1a Trpc6 Umod Xylt1 Yes1	114886 11555 12162 12371 12477 12826 13010 14068 14380 14381 14534 15450 16591 16819 170643 17096 171283 171284 17345 17395 18519 19055 20296 20779 20787 20788 216274 21812 21813 21926 21937 22068 22242 22612 233781 235435 243911 54409 54631 56217 58805 65969 67703 76408 83379 93835	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11963	esophagitis Aliases: acute esophagitis	dbl-1	179068	Caenorhabditis elegans	Alliance of Genome Resources
DOID:1394	urinary schistosomiasis Aliases: Schistosoma Hematobium Infection Schistosoma haematobium Schistosoma hematobium infectious disease Schistosomiasis due to schistosoma haematobium Schistosomiasis of bladder Vesical schistosomiasis bladder Schistosomiasis cystitis with bilharziasis	Cd1d1 Cd1d2 Ctla4 Il5 Stat6	12477 12479 12480 16191 20852	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050768	mitochondrial complex V (ATP synthase) deficiency nuclear type 1 Aliases: MC5DN1	ATPAF2	91647	Homo sapiens (human)	Alliance of Genome Resources
DOID:1882	atrial heart septal defect Aliases: atrial septal defect atrioseptal defect auricular septal defect congenital atrial septal defect interatrial septal defect interauricular septal defect	CDC25	851019	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:557	kidney disease Aliases: impaired renal function disease nephropathy	W01F3.2 cpi-1 cubn-1 daf-1 daf-4 dbl-1 gspd-1 klo-1 let-2 mrp-1 mrp-2 sqv-6 syg-1 syg-2 zmp-2 zmp-4	175383 175781 176829 177372 177557 178046 179068 179729 179991 180351 180408 180409 180555 181561 181708 190099	Caenorhabditis elegans	Alliance of Genome Resources
DOID:9408	acute myocardial infarction	RHO1	856294	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050800	cerebral creatine deficiency syndrome 1 Aliases: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 SLC6A8 deficiency creatine transporter deficiency	SLC6A8	6535	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110567	autosomal dominant nonsyndromic deafness 41 Aliases: DFNA41 autosomal dominant deafness 41	P2rx2	114115	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050200	Korean hemorrhagic fever	Foxp3 Il2ra	16184 20371	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050565	autosomal recessive nonsyndromic deafness	Cad87A Tmtc4	41441 41867	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:13938	amenorrhea Aliases: absence of menstruation amenia	Fshb	25447	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110682	congenital myasthenic syndrome 16 Aliases: CMS16 congenital myasthenic syndrome acetazolamide-responsive	para	32619	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111310	familial febrile seizures 2 Aliases: FEB2 familial febrile convulsions 2	Hcn2	114244	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110635	muscular dystrophy-dystroglycanopathy type B5 Aliases: FKRP-related congenital muscular dystrophy MDC1C MDDGB5 congenital muscular dystrophy 1C muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	CG15651	37375	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060901	lymphoplasmacytic lymphoma Aliases: Waldenstroem's macroglobulinemia Waldenstrom Macroglobulinemia lymphoplasmacytic lymphoma with IgM gammopathy	CXCR4 FCGR3A GPX3 IL10 IL6 IRF4 MYD88	2214 2878 3569 3586 3662 4615 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070131	autosomal dominant cutis laxa 3 Aliases: ADCL3	ALDH18A1	5832	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060464	Feingold syndrome Aliases: FGLDS MODED syndrome ODED syndrome digital anomalies with short palpebral fissures and atresia of esophagus or duodenum microcephaly-digital anomalies-normal intelligence syndrome microcephaly-oculo-digito-esophageal-duodenal syndrome oculo-digito-esophageal-duodenal syndrome	MYCN	4613	Homo sapiens (human)	Alliance of Genome Resources
DOID:0002116	pterygium Aliases: surfer's eye	CAT ELN KDR MMP2 MMP9 OGG1 PECAM1 TP53 VEGFA VEGFC	2006 3791 4313 4318 4968 5175 7157 7422 7424 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	mpdu1	548940	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources

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